Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

David Pareyson, F. Taroni, S. Botti, M. Morbin, S. Baratta, G. Lauria, C. Ciano, A. Sghirlanzoni

Research output: Contribution to journalArticle

Abstract

Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.

Original languageEnglish
Pages (from-to)1696-1698
Number of pages3
JournalNeurology
Volume54
Issue number8
Publication statusPublished - Apr 25 2000

Keywords

  • Charcot-Marie-Tooth disease
  • Cranial nerves
  • Demyelinating neuropathy
  • EGR2
  • Myelin genes

ASJC Scopus subject areas

  • Neuroscience(all)

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